Publications:

Channelopathy Genes in Pulmonary Arterial Hypertension.

Biomolecules

Welch, Carrie L CL; Chung, Wendy K WK

Publication Date: 2022-02-07

Variant appearance in text: PAH: 608G>A

PubMed Link: 35204766

Variant Present in the following documents:

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• biomolecules-12-00265.pdf

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: PAH: 608G>A

PubMed Link: 35193651

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• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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Saudi Guidelines on the Diagnosis and Treatment of Pulmonary Hypertension: Genetics of pulmonary hypertension.

Annals Of Thoracic Medicine

Pasha, Qadar Q

Publication Date: 2014-07

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PubMed Link: 25076992

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• ATM-9-16.pdf

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Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.

Orphanet Journal Of Rare Diseases

Anjema, Karen K; van Rijn, Margreet M; Hofstede, Floris C FC; Bosch, Annet M AM; Hollak, Carla E M CE; Rubio-Gozalbo, Estela E; de Vries, Maaike C MC; Janssen, Mirian C H MC; Boelen, Carolien C A CC; Burgerhof, Johannes G M JG; Blau, Nenad N; Heiner-Fokkema, M Rebecca MR; van Spronsen, Francjan J FJ

Publication Date: 2013-07-10

Variant appearance in text: PAH: C203Y

PubMed Link: 23842451

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• Main text
• 1750-1172-8-103.pdf

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Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

American Journal Of Human Genetics

Pey, Angel L AL; Stricher, Francois F; Serrano, Luis L; Martinez, Aurora A

Publication Date: 2007-11

Variant appearance in text: PAH: C203Y

PubMed Link: 17924342

Variant Present in the following documents:

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